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A Rare Variant of ANK3 Is Associated With Intracranial Aneurysm

Junyu Liu1, Xin Liao2,3, Jilin Zhou1

  • 1Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha, China.

Frontiers in Neurology
|July 12, 2021
PubMed

Insights

Genetic variations in the ANK3 gene are linked to intracranial aneurysms (IA), a dangerous cerebrovascular disorder. This finding offers new insights into IA etiology and potential genetic risk factors.

Area of Science:

  • Genetics
  • Vascular Biology
  • Neurology

Background:

  • Intracranial aneurysm (IA) is a cerebrovascular disorder characterized by abnormal blood vessel dilation, often leading to life-threatening subarachnoid hemorrhage.
  • The genetic underpinnings of IA remain incompletely understood, necessitating research into causative genetic factors.

Purpose of the Study:

  • To identify genetic variants contributing to the etiology of intracranial aneurysms.
  • To investigate the association of candidate genes with IA in familial and sporadic cases.

Main Methods:

  • Whole-exome sequencing was employed in three IA-aggregate families to identify potential causative variants.
  • Association studies were conducted on candidate variants in sporadic IA cases and control populations.
  • Bioinformatic analyses were utilized to predict the functional impact of identified gene variants.

Main Results:

  • Twenty variants were identified via whole-exome sequencing, with eight selected for further association studies.
  • The ANK3 c.4403G>A (p.R1468H) variant showed a significant association with IA (OR=4.77, P=0.00019).
  • Bioinformatic predictions indicated that the R1468H variation in ANK3 may affect vascular endothelial cell migration and cell-cell junctions, potentially weakening artery walls.

Conclusions:

  • The ANK3 gene, specifically the p.R1468H variant, is identified as a significant candidate gene associated with intracranial aneurysm development.
  • This finding suggests that ANK3 plays a crucial role in vascular integrity and may contribute to IA pathogenesis by affecting vascular endothelial cell function.

Keywords:
ANK3candidate geneintracranial aneurysmneurosurgerywhole exome sequencing

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